Canonical Allele Identifier: CA10213165
Community Standard Title: NM_000631.5(NCF4):c.758+50C>T
Gene: NCF4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36875833C>T , CM000684.2:g.36875833C>T GRCh38
NC_000022.10:g.37271875C>T , CM000684.1:g.37271875C>T GRCh37
NC_000022.9:g.35601821C>T NCBI36
NG_023400.1:g.19846C>T , LRG_159:g.19846C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000631.5:c.758+50C>T MANE Select NP_000622.2:n.758+50C>T
ENST00000248899.11:c.758+50C>T MANE Select ENSP00000248899.6:n.758+50C>T
NM_000631.4:c.758+50C>T NP_000622.2:n.758+50C>T
NM_013416.3:c.808C>T , LRG_159t1:c.808C>T NP_038202.2:p.Arg270Ter
NM_013416.4:c.808C>T NP_038202.2:p.Arg270Ter
ENST00000248899.10:c.758+50C>T ENSP00000248899.6:n.758+50C>T
ENST00000397147.6:c.808C>T ENSP00000380334.4:p.Arg270Ter
ENST00000397147.7:c.808C>T ENSP00000380334.4:p.Arg270Ter
ENST00000415063.2:n.398C>T
ENST00000650698.1:c.449+50C>T ENSP00000498381.1:n.449+50C>T
ENST00000650827.1:c.449+50C>T ENSP00000498212.1:n.449+50C>T
ENST00000651053.1:n.1067+46C>T
XM_011530198.1:c.932+50C>T XP_011528500.1:n.932+50C>T
XM_011530199.1:c.902+50C>T XP_011528501.1:n.902+50C>T
XM_017028808.1:c.449+50C>T XP_016884297.1:n.449+50C>T